藏犬EPAS1基因等位基因频率与海拔相关性分析
文献类型：学位论文
| 作者 | 刘菲 |
| 学位类别 | 硕士 |
| 答辩日期 | 2013-05 |
| 授予单位 | 中国科学院研究生院 |
| 授予地点 | 北京 |
| 导师 | 张亚平 |
| 关键词 | 藏犬 海拔 EPAS1基因 相关性分析 |
| 其他题名 | Correlation analysis between altitude and allele frequency of EPAS1 in Tibetan dogs |
| 学位专业 | 遗传学 |
| 中文摘要 | 藏犬主要原产于我国青藏高原地区，海拔3000-5000米以上的，分布于西藏、青海、甘肃和四川等省区。在青藏高原，最为普遍的是藏土狗，此外，特殊的地理和人文历史培育出了藏獒、藏狮、西藏梗、西藏猎犬以及拉萨犬等名贵犬种，这些犬种都是原产于我国青藏高原地区的古老犬种，具有悠久的发展历史，虽然它们形态各异，但是都能够很好适应高原低氧低寒的恶劣环境。藏犬生活在青藏高原地区长达几千年时间，在这么长的时间内，藏犬可能通过自身的适应和自然选择最终获得可遗传高原适应性，这种适应性使得藏犬能够成功定居于青藏高原而不会因为高原反应被淘汰。 本实验以家犬重测序为基础，通过全基因组研究方法发掘与藏犬高原适应性相关的单核苷酸多态性位点（Singe nucleotide polymorphism, SNP），进而进行群体遗传学研究和相关性分析，结果显示EPAS1（endothelia PAS domain protein 1，EPAS1）基因具有强烈的选择信号。EPAS1基因，编码HIF-2α蛋白，该蛋白是低氧诱导通路(Hypoxia-inducible transcription factor, HIF pathway)中的一个转录因子，是低氧诱导调节亚基，受氧气浓度的调控，与长期慢性低氧适应相关。因而，深入研究该基因相关位点在不同群体中遗传多态性，对揭示家犬高原适应性机制具有重要意义。 我们对14个来自中国地区家犬群体，总共300多个个体EPAS1基因的3个片段序列进行扩增（包含ExonA， ExonB， ExonC号外显子的部分或全部序列），测定目标片段中存在的SNPs。通过相关性分析和连锁不平衡强度分析，显示三个片段中等位基因频率与海拔高度显著相关，并处于强烈连锁不平衡区域中，提示该区域可能受到强烈选择作用。这种作用可能与EPAS1基因在低氧诱导通路中的重要作用相关，可能是藏犬对长期低氧胁迫的一种适应机制。本研究为藏犬高原适应性机制研究提供遗传依据，同时也为藏犬起源与进化历史提供依据。 |
| 英文摘要 | Tibetan dogs is native to Qinghai-Tibet Plateau elevation of 3000-5000 meters in China, which distributed in Tibet, Qinghai, Gansu and Sichuan provinces. In the Qinghai-Tibet Plateau, the most common native dog was the Tibetan indigenous dog, in addition, the special geographical and humanistic history bred some rare dog breeds, such as Tibetan mastiff, Tibetan kyi apso, Tibetan terrier, Tibetan Spaniel, Lhasa apso. They are the oldest breed originating in the region of the Qinghai-Tibet Plateau in China, whose have a long development history. They lived in the Qinghai-Tibet Plateau region for thousands of years, in such a long time, Tibetan dogs may obtain genetic adaptability through self-adaptation and natural selection, and help Tibetan dogs succeed settle in Qinghai-Tibetan Plateau rather than because of altitude sickness be eliminated.In our research, we apply whole genome resequencing research methods to explore the related SNPs in adaptation of Tibetan dog based on whole-genome resequencing in dog. Moreover, we develop population genetic and correlation analysis on selected the strongest signal SNPs as candidate gene. The results showed that EPAS1 (endothelia PAS domain protein 1, EPAS1) gene was a strong selection signal in different populations. HIF-2α protein, encoded EPAS1 gene, which is induced by hypoxia pathway (Hypoxia-inducible transcription factor, HIF pathway) is a transcription factor and hypoxia inducible regulatory subunit, regulated by the oxygen concentration, associated with chronic hypoxia adaptation. Therefore，there was an important significance in dog high-altitude adaptation research through deeply analyzed the genetic diversity of the different population in EPAS1 gene.We amplified EPAS1 gene three region sequencing(partial or total sequence containing ExonA, ExonB, ExonC) from 14 dog populations in China, in total more than 300 individual, and screened the single nucleotide polymorphism (SNP) in target fragments. The correlation analysis and the linkage disequilibrium analysis, and found that there were significantly correlated between allele frequency and altitude in the three fragments, and were in a strongly linkage block, suggested that this region may be under strong selection effects. This effect may be related to play an important role of EPAS1 gene in hypoxia induced pathway and may be an adaptation mechanism under long-term hypoxia stress in Tibetan dog.This study provided genetic evidence for the study of Tibetan dogs high-altitude adaptation mechanism, but also provided the basis for the origin and evolutionary history of Tibetan dogs. |
| 语种 | 中文 |
| 公开日期 | 2013-06-14 |
| 源URL | [http://159.226.149.42:8088/handle/152453/7477]  |
| 专题 | 昆明动物研究所_分子进化基因组学 |
| 推荐引用方式 GB/T 7714 | 刘菲. 藏犬EPAS1基因等位基因频率与海拔相关性分析[D]. 北京. 中国科学院研究生院. 2013. |
入库方式： OAI收割
来源：昆明动物研究所
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